失禁色素的颜料 失禁色素的颜料
1Children's Hospital Los Angeles, Division of Neurology, 46450 Sunset Blvd, MS#82, Los Angeles, CA 90027, USA.
Seminars in pediatric neurology
|October 10, 2024
概括
尿失禁色素 (IP) 是一种罕见的遗传性疾病,主要影响女性,导致皮肤病变,经常涉及中枢神经系统 (CNS). 神经系统并发症,如中风和发育迟缓,需要终身的多学科护理.
科学领域:
- 遗传学 遗传学 是一个
- 神经学 神经学
- 皮肤病学 皮肤病学
背景情况:
- 尿失禁色素 (IP) 是一种罕见的X相关的主导性疾病,主要影响女性.
- 它的特点是明显的皮肤病变,经常涉及外皮组织,包括中枢神经系统 (CNS),眼睛,头发,牙和指甲.
- 神经系统异常很常见,并可能导致显著的长期发病率.
研究的目的:
- 总结一下Incontinentia pigment (IP) 的主要特征.
- 突出神经系统表现及其影响.
- 强调多学科护理的重要性以及神经病学家在管理知识产权方面的作用.
主要方法:
- 关于Incontinentia pigmenti (IP) 的现有文献的审查.
- 对临床诊断标准和管理准则的分析.
- 专注于神经成像发现和病理机制.
主要成果:
- IP涉及不断演变的皮肤病变和各种外皮异常,经常涉及中枢神经系统.
- 新生儿的神经系统并发症包括导致中风和急性传播性脑筋炎的炎症性微血管变化.
- 慢性神经系统的后果包括,脑,智力障碍,白质异常和大脑发育不良.
结论:
- 现型化和遗传鉴定 (IKBKG病原型) 的进步改善了IP的诊断和管理.
- 对于IP患者来说,多学科的护理是必不可少的,特别是由于中枢神经系统经常受到影响.
- 神经学家在管理无性色素的终身神经学方面发挥着至关重要的作用.
关键词:
失禁色素的颜料 失禁色素的颜料
相关概念视频
00:50Unrenewable Cells
2.3K
In humans, the photoreceptor cells of the eye and sensory hair cells of the ear lack stem cells. These cells are thus unrenewable and cannot be replaced when they are damaged or destroyed.
Photoreceptors
The retina is composed of several layers and contains specialized cells called photoreceptors. The photoreceptors (rods and cones) change their membrane potential when stimulated by light energy. There are two types of photoreceptors—rods and cones—which differ in the shape of...
Photoreceptors
The retina is composed of several layers and contains specialized cells called photoreceptors. The photoreceptors (rods and cones) change their membrane potential when stimulated by light energy. There are two types of photoreceptors—rods and cones—which differ in the shape of...
2.3K
01:19Pigmentation
2.3K
The color of the skin is influenced by a number of pigments, including melanin, carotene, and hemoglobin. Recall that melanin is produced by cells called melanocytes, which are found scattered throughout the stratum basale of the epidermis. The melanin is transferred to the keratinocytes via melanosomes.
Melanin occurs in two primary forms: eumelanin that provides black and brown pigment and pheomelanin that provides red color. Dark-skinned individuals produce more melanin than those with pale...
Melanin occurs in two primary forms: eumelanin that provides black and brown pigment and pheomelanin that provides red color. Dark-skinned individuals produce more melanin than those with pale...
2.3K
01:23Skin Diseases and Disorders
3.7K
Skin is the first line of defense and encounters a variety of microbes. Some pathogenic strains are often the cause of a broad range of infections of the skin and other body systems. These conditions can affect people of all ages and may have different causes, including genetic factors, infections, autoimmune reactions, environmental factors, and lifestyle choices.
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
3.7K
01:26The Micturition Reflex
479
Urination, or micturition involves the coordination of the bladder's detrusor muscle and two sphincters to ensure controlled bladder emptying.
The process begins with bladder filling, where the bladder wall stretches as urine accumulates. This stretching activates the urine storage reflex, mediated by the sacral spinal segments and the pontine storage center. Efferent sympathetic impulses stimulate the detrusor muscle to relax and the internal urethral sphincter to contract, facilitating...
The process begins with bladder filling, where the bladder wall stretches as urine accumulates. This stretching activates the urine storage reflex, mediated by the sacral spinal segments and the pontine storage center. Efferent sympathetic impulses stimulate the detrusor muscle to relax and the internal urethral sphincter to contract, facilitating...
479
01:22Photoreceptors and Visual Pathways
5.8K
At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category,...
5.8K
01:23Renewal of Intestinal Stem Cells
2.5K
The intestinal epithelial lining rapidly renews every 4 to 5 days. The renewal is facilitated by intestinal stem cells (ISCs) located at the base of the crypt– a gland located at the bottom of each villus. ISCs divide asymmetrically to form new stem cells and progenitor daughter cells. The daughter cells are called transit-amplifying (TA) cells which move upwards along the crypt and either differentiate into absorptive cells– the enterocytes or secretory cells– including the...
2.5K